ArticleAmerican journal of respiratory and critical care medicine2010
Somatic chromosome abnormalities in the lungs of patients with pulmonary arterial hypertension.
Article in American journal of respiratory and critical care medicine, 2010. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 100 papers, 1 of them a synthesis that pooled it.
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Who cites it
100 citing papers in PubMed, 1 synthesis or guideline pooled it, 146 citations in OpenAlex.
- A systematic review of genetic mutations in pulmonary arterial hypertension.BMC medical genetics · 2017Pooled it
- Snhg18 promotes hypoxic pulmonary hypertension by enhancing glycolysis.Respiratory research · 2026Article
- Review
- Identification of TFRC as a biomarker for pulmonary arterial hypertension based on bioinformatics and experimental verification.Respiratory research · 2024Article
- Pulmonary Hypertension and Hyperglycemia-Not a Sweet Combination.Diagnostics (Basel, Switzerland) · 2024Review
- Blood Cholesterol and Triglycerides Associate with Right Ventricular Function in Pulmonary Hypertension.medRxiv : the preprint server for health sciences · 2024Article
- Reduced FOXF1 links unrepaired DNA damage to pulmonary arterial hypertension.Nature communications · 2023Article
- Pathophysiology and pathogenic mechanisms of pulmonary hypertension: role of membrane receptors, ion channels, and CaPhysiological reviews · 2023Review
- Tensions in Taxonomies: Current Understanding and Future Directions in the Pathobiologic Basis and Treatment of Group 1 and Group 3 Pulmonary Hypertension.Comprehensive Physiology · 2023Review
- Emerging role of exosomes in vascular diseases.Frontiers in cardiovascular medicine · 2023Review
- The Impact of Sex Chromosomes in the Sexual Dimorphism of Pulmonary Arterial Hypertension.The American journal of pathology · 2022Review
- Epigenetic Mechanisms as Emerging Therapeutic Targets and Microfluidic Chips Application in Pulmonary Arterial Hypertension.Biomedicines · 2022Review
- Metabolic reprogramming: A novel metabolic model for pulmonary hypertension.Frontiers in cardiovascular medicine · 2022Review
- Approaches to treat pulmonary arterial hypertension by targeting BMPR2: from cell membrane to nucleus.Cardiovascular research · 2021Review
- Single-cell transcriptomic profile of human pulmonary artery endothelial cells in health and pulmonary arterial hypertension.Scientific reports · 2021Article
- Up-Regulation of the Long Noncoding RNA X-Inactive-Specific Transcript and the Sex Bias in Pulmonary Arterial Hypertension.The American journal of pathology · 2021Article
- Up-regulation of circRNA_0068481 promotes right ventricular hypertrophy in PAH patients via regulating miR-646/miR-570/miR-885.Journal of cellular and molecular medicine · 2021Article
- Metabolism in Pulmonary Hypertension.Annual review of physiology · 2021Review
- PPARγ-p53-Mediated Vasculoregenerative Program to Reverse Pulmonary Hypertension.Circulation research · 2021Article
- Glutaminolysis: A Driver of Vascular and Cardiac Remodeling in Pulmonary Arterial Hypertension.Frontiers in cardiovascular medicine · 2021Review
40 more citing papers are in PubMed but not listed here.
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Authors and funding
11 authors at 6 institutions in 1 country.
Funding
Abstract
rationaleVascular remodeling in pulmonary arterial hypertension (PAH) involves proliferation and migration of endothelial and smooth muscle cells, leading to obliterative vascular lesions. Previous studies have indicated that the endothelial cell proliferation is quasineoplastic, with evidence of monoclonality and instability of short DNA microsatellite sequences.
objectivesTo assess whether there is larger-scale genomic instability.
methodsWe performed genome-wide microarray copy number analysis on pulmonary artery endothelial cells and smooth muscle cells isolated from the lungs of patients with PAH. MEASUREMENTS AND MAIN
resultsMosaic chromosomal abnormalities were detected in PAEC cultures from five of nine PAH lungs but not in normal (n = 8) or disease control subjects (n = 5). Fluorescent in situ hybridization analysis confirmed the presence of these abnormalities in vivo in two of three cases. One patient harbored a germline mutation of BMPR2, the primary genetic cause of PAH, and somatic loss of chromosome-13, which constitutes a second hit in the same pathway by deleting Smad-8. In two female subjects with mosaic loss of the X chromosome, methylation analysis showed that the active X was deleted. One subject also showed completely skewed X-inactivation in the nondeleted cells, suggesting the pulmonary artery endothelial cell population was clonal before the acquisition of the chromosome abnormality.
conclusionsOur data indicate a high frequency of genetically abnormal subclones within PAH lung vessels and provide the first definitive evidence of a second genetic hit in a patient with a germline BMPR2 mutation. We propose that these chromosome abnormalities may confer a growth advantage and thus contribute to the progression of PAH.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.